Linked Data
ClinVar Variation Id:
37575
dbSNP Id:
rs80357353
ExAC:
17:41234565 T / C
gnomAD v2:
17-41234565-T-C
gnomAD v3:
17-43082548-T-C
gnomAD v4:
17-43082548-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082548T>C , CM000679.2:g.43082548T>C | GRCh38 |
| NC_000017.10:g.41234565T>C , CM000679.1:g.41234565T>C | GRCh37 |
| NC_000017.9:g.38488091T>C | NCBI36 |
| NG_005905.2:g.135436A>G , LRG_292:g.135436A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4213A>G | ENSP00000417241.2:p.Ile1405Val | |
| ENST00000470026.6:c.4213A>G | ENSP00000419274.2:p.Ile1405Val | |
| ENST00000473961.6:c.4087A>G | ENSP00000420201.2:p.Ile1363Val | |
| ENST00000476777.6:c.4207A>G | ENSP00000417554.2:p.Ile1403Val | |
| ENST00000477152.6:c.4135A>G | ENSP00000419988.2:p.Ile1379Val | |
| ENST00000478531.6:c.901A>G | ENSP00000420412.2:p.Ile301Val | |
| ENST00000489037.2:c.4135A>G | ENSP00000420781.2:p.Ile1379Val | |
| ENST00000493919.6:c.763A>G | ENSP00000418819.2:p.Ile255Val | |
| ENST00000494123.6:c.4213A>G | ENSP00000419103.2:p.Ile1405Val | |
| ENST00000497488.2:c.3325A>G | ENSP00000418986.2:p.Ile1109Val | |
| ENST00000618469.2:c.4213A>G | ENSP00000478114.2:p.Ile1405Val | |
| ENST00000634433.2:c.4090A>G | ENSP00000489431.2:p.Ile1364Val | |
| ENST00000644379.2:c.4213A>G | ENSP00000496570.2:p.Ile1405Val | |
| ENST00000644555.2:c.763A>G | ENSP00000494614.2:p.Ile255Val | |
| ENST00000652672.2:c.4072A>G | ENSP00000498906.2:p.Ile1358Val | |
| ENST00000484087.6:c.778A>G | ENSP00000419481.2:p.Ile260Val | |
| ENST00000700182.1:c.823A>G | ENSP00000514849.1:p.Ile275Val | |
| ENST00000357654.9:c.4213A>G MANE Select | ENSP00000350283.3:p.Ile1405Val | |
| ENST00000471181.7:c.4213A>G | ENSP00000418960.2:p.Ile1405Val | |
| ENST00000644379.1:c.534A>G | ||
| ENST00000352993.7:c.787A>G | ENSP00000312236.5:p.Ile263Val | |
| ENST00000357654.7:c.4213A>G | ENSP00000350283.3:p.Ile1405Val | |
| ENST00000461221.5:c.*3996A>G | ENSP00000418548.1:n.*3996A>G | |
| ENST00000461574.1:c.507A>G | ||
| ENST00000468300.5:c.904A>G | ENSP00000417148.1:p.Ile302Val | |
| ENST00000471181.6:c.4213A>G | ENSP00000418960.2:p.Ile1405Val | |
| ENST00000478531.5:c.901A>G | ENSP00000420412.1:p.Ile301Val | |
| ENST00000484087.5:c.526A>G | ENSP00000419481.1:p.Ile176Val | |
| ENST00000487825.5:c.529A>G | ENSP00000418212.1:p.Ile177Val | |
| ENST00000491747.6:c.904A>G | ENSP00000420705.2:p.Ile302Val | |
| ENST00000493795.5:c.4072A>G | ENSP00000418775.1:p.Ile1358Val | |
| ENST00000493919.5:c.763A>G | ENSP00000418819.1:p.Ile255Val | |
| ENST00000586385.5:c.5-18597A>G | ENSP00000465818.1:n.5-18597A>G | |
| ENST00000591534.5:c.-43-8027A>G | ENSP00000467329.1:n.-43-8027A>G | |
| ENST00000591849.5:c.-98-32358A>G | ENSP00000465347.1:n.-98-32358A>G | |
| ENST00000621897.1:n.107A>G | ||
| NM_007294.3:c.4213A>G , LRG_292t1:c.4213A>G | NP_009225.1:p.Ile1405Val | |
| NM_007297.3:c.4072A>G | NP_009228.2:p.Ile1358Val | |
| NM_007298.3:c.904A>G | NP_009229.2:p.Ile302Val | |
| NM_007299.3:c.904A>G | NP_009230.2:p.Ile302Val | |
| NM_007300.3:c.4213A>G | NP_009231.2:p.Ile1405Val | |
| NR_027676.1:n.4349A>G | ||
| NM_007294.4:c.4213A>G MANE Select | NP_009225.1:p.Ile1405Val | |
| NM_007297.4:c.4072A>G | NP_009228.2:p.Ile1358Val | |
| NM_007299.4:c.904A>G | NP_009230.2:p.Ile302Val | |
| NM_007300.4:c.4213A>G | NP_009231.2:p.Ile1405Val | |
| NR_027676.2:n.4390A>G |